Recognition of familial myeloid neoplasia in adults
Recognition of familial myeloid neoplasia in adults
复制标题
DOI：
10.1053/j.seminhematol.2016.11.003
复制
发表时间：
2017-04-01
影响因子：
3.6
通讯作者：
Godley, Lucy A.
中科院分区：
文献类型：
--
作者：
Brown, Anna L.;Churpek, Jane E.;Godley, Lucy A.
遗传性恶性血液病(HM)综合征越来越被认为是成人造血癌的病因，而下一代测序的出现加速了基于这些疾病在特定家族中密集聚集的新综合征的发现。最新的髓系恶性肿瘤分类方案现在将包括建议对所有被诊断为血液系统恶性肿瘤的患者进行家族史记录，以及对适当的个人和家庭进行遗传咨询和检测。因此，临床医生和病理学家现在比以往任何时候都更需要有高度的怀疑指数，并熟悉患者的个人或家族史中应引起对这些症状的怀疑的方面，以及临床测试的选择。只要有可能，个人应该接受经过认证的临床平台的测试，这些平台可以检测破坏基因功能的点突变和基因组重排，以便结果立即可操作。已知的种系易感基因突变检测为阴性的个人和家庭是发现新的遗传易感综合征的重要来源。(C)2017 Elsevier Inc.保留所有权利。
Hereditary hematologic malignancy (HM) syndromes are increasingly recognized as causative of adult hematopoietic cancers, and the advent of next-generation sequencing has accelerated the discovery of new syndromes based on dense clustering of these diseases in particular families. Updated classificationi schemes for myeloid malignancies will now include recommendations for taking a family history on all patients diagnosed with hematopoietic malignancies and for genetic counseling and testing of appropriate individuals and families. Therefore, now more than ever, clinicians and pathologists will need to have a high index of suspicion and be familiar with the aspects of a patient's personal or family history that should raise suspicion regarding these syndromes as well as the options for clinical testing. Whenever possible, individuals should be tested with certified, clinical platforms that can detect both point mutations and genomic rearrangements that disrupt gene function so that results are immediately actionable. Individuals and families who test negative for mutations in the known germline predisposition genes serve as important sources of discovery for new inherited susceptibility syndromes. (C) 2017 Elsevier Inc. All rights reserved.